A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594753



Internal ID6635029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237837657..237838054hg38UCSC Ensembl
Innerchr2:237837657..237838054hg38UCSC Ensembl
Outerchr2:237837227..237838461hg38UCSC Ensembl
chr2:238746300..238746697hg19UCSC Ensembl
Innerchr2:238746300..238746697hg19UCSC Ensembl
Outerchr2:238745870..238747104hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38398
hg19398
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10887473, essv10887470, essv10887420, essv10887407, essv10887399, essv10887431, essv10887387, essv10887458, essv10887426, essv10887459, essv10887403, essv10887451, essv10887433, essv10887439, essv10887442, essv10887461, essv10887405, essv10887386, essv10887389, essv10887424, essv10887463, essv10887460, essv10887438, essv10887445, essv10887408, essv10887443, essv10887472, essv10887430, essv10887402, essv10887423, essv10887417, essv10887419, essv10887429, essv10887392, essv10887410, essv10887406, essv10887421, essv10887409, essv10887437, essv10887468, essv10887444, essv10887391, essv10887467, essv10887457, essv10887400, essv10887390, essv10887397, essv10887440, essv10887434, essv10887454, essv10887395, essv10887447, essv10887396, essv10887416, essv10887411, essv10887441, essv10887398, essv10887401, essv10887436, essv10887466, essv10887452, essv10887448, essv10887415, essv10887413, essv10887422, essv10887388, essv10887393, essv10887385, essv10887412, essv10887394, essv10887455, essv10887428, essv10887471, essv10887425, essv10887465, essv10887469, essv10887453, essv10887404, essv10887427, essv10887435, essv10887456, essv10887450, essv10887464, essv10887449, essv10887418, essv10887384, essv10887446, essv10887462, essv10887432, essv10887414
SamplesHG03821, NA12154, HG00318, NA07347, NA20527, NA20503, NA21113, HG00743, HG01130, NA12286, HG00171, HG00245, NA19455, HG01777, HG01085, HG00117, HG04026, HG01082, HG01685, HG00375, HG00368, HG01491, HG01606, NA20539, HG01188, NA07051, HG03765, NA19678, HG01101, HG01134, NA11893, HG01608, HG00290, HG00256, HG03690, HG02699, HG03235, HG01392, HG01756, NA20757, HG01048, NA20530, HG01398, NA12814, NA20754, HG00125, HG00254, NA19684, NA20773, NA12751, NA19725, HG01097, HG00268, NA06985, HG00255, HG01486, HG01455, HG00176, HG04239, HG00273, HG00132, HG00101, NA20542, HG01260, HG01060, HG02345, HG01565, NA20525, HG01063, NA12272, HG00181, HG01345, HG01673, NA12812, HG03771, HG02230, NA19434, HG01412, HG03708, HG00123, NA19749, NA19327, HG01619, NA20806, NA20772, HG01932, HG03730, HG00271, HG02215, NA19466
Known GenesRBM44
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594753
Frequency
Sample Size2504
Observed Gain0
Observed Loss90
Observed Complex0
Frequencyn/a


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