A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590421



Internal ID6630707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38729595..38747000hg38UCSC Ensembl
chr2:38956737..38974142hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3817406
hg1917406
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10468488, essv10468458, essv10468493, essv10468443, essv10468431, essv10468467, essv10468475, essv10468440, essv10468455, essv10468434, essv10468479, essv10468444, essv10468494, essv10468450, essv10468418, essv10468427, essv10468498, essv10468424, essv10468453, essv10468483, essv10468492, essv10468411, essv10468469, essv10468419, essv10468451, essv10468432, essv10468421, essv10468500, essv10468425, essv10468464, essv10468422, essv10468502, essv10468448, essv10468445, essv10468438, essv10468507, essv10468471, essv10468439, essv10468409, essv10468457, essv10468459, essv10468497, essv10468426, essv10468413, essv10468435, essv10468423, essv10468496, essv10468485, essv10468470, essv10468463, essv10468417, essv10468477, essv10468430, essv10468480, essv10468487, essv10468499, essv10468433, essv10468429, essv10468442, essv10468420, essv10468462, essv10468410, essv10468482, essv10468481, essv10468504, essv10468416, essv10468501, essv10468460, essv10468447, essv10468441, essv10468486, essv10468484, essv10468456, essv10468449, essv10468490, essv10468474, essv10468415, essv10468466, essv10468495, essv10468472, essv10468473, essv10468454, essv10468468, essv10468478, essv10468446, essv10468412, essv10468465, essv10468428, essv10468476, essv10468452, essv10468505, essv10468503, essv10468461, essv10468436, essv10468506, essv10468489, essv10468437, essv10468491, essv10468414
SamplesHG00096, NA19794, HG00102, HG01610, HG00384, NA10851, HG00351, HG01079, HG00100, HG04194, HG01586, HG03767, NA11931, NA19734, HG00257, HG00315, HG00306, HG00318, HG00244, HG01686, HG01531, HG00337, HG00327, HG00641, HG04100, NA12812, HG01070, HG01351, HG02485, HG00173, NA12348, HG00736, NA07347, NA12283, HG01510, NA20287, HG00311, NA19923, NA12005, HG03817, HG02315, HG00379, HG00335, HG00106, HG01405, HG02427, HG01771, HG01275, HG00178, NA20757, NA20587, HG01699, HG00260, HG01353, HG00313, HG00137, HG00149, HG00731, HG00380, HG00282, HG01271, NA20521, NA20126, NA20832, HG01092, HG03742, HG02604, HG01707, NA12249, NA12827, HG03854, HG01334, HG03672, NA12778, HG00336, HG02220, HG00357, HG01108, NA12763, NA06994, HG01432, HG00381, HG00342, HG00186, HG01631, HG00280, HG00131, HG02052, HG00252, HG00105, NA20503, NA11892, HG01775, HG01111, HG03890, NA07000, HG01097, HG01786, HG03886
Known GenesGALM, SRSF7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590421
Frequency
Sample Size2504
Observed Gain99
Observed Loss0
Observed Complex0
Frequencyn/a


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