A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622034



Internal ID6662204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137433077..137439026hg38UCSC Ensembl
chr9:140327529..140333478hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg385950
hg195950
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13660441, essv13660404, essv13660394, essv13660403, essv13660402, essv13660391, essv13660414, essv13660429, essv13660388, essv13660399, essv13660432, essv13660427, essv13660416, essv13660410, essv13660442, essv13660420, essv13660421, essv13660395, essv13660397, essv13660386, essv13660398, essv13660439, essv13660440, essv13660438, essv13660385, essv13660389, essv13660434, essv13660431, essv13660383, essv13660422, essv13660419, essv13660437, essv13660423, essv13660406, essv13660444, essv13660435, essv13660417, essv13660411, essv13660436, essv13660408, essv13660428, essv13660400, essv13660390, essv13660424, essv13660430, essv13660425, essv13660382, essv13660443, essv13660387, essv13660415, essv13660401, essv13660433, essv13660393, essv13660392, essv13660426, essv13660413, essv13660412, essv13660418, essv13660409, essv13660407, essv13660396, essv13660405, essv13660384
SamplesHG00442, HG00536, NA19914, HG02061, NA18639, HG00452, NA12058, HG00341, NA19920, NA19067, NA18969, HG00337, HG01702, NA18567, HG00458, HG00851, HG00346, HG02054, HG00451, HG00335, HG00422, NA19317, HG00406, HG00419, NA19007, HG00543, HG00443, HG00982, HG01104, HG00428, HG00475, HG01029, HG00956, HG00479, NA18553, NA19059, HG00445, HG00376, HG01700, HG00407, NA19003, HG00382, HG00476, HG00383, HG01915, HG01861, HG01086, HG00478, HG00446, HG00381, HG01028, HG00421, HG00378, HG01085, NA19726, HG01105, HG00472, HG01082, HG00345, NA19063, HG01923, HG00437, HG01618
Known GenesENTPD8, NOXA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622034
Frequency
Sample Size2504
Observed Gain63
Observed Loss0
Observed Complex0
Frequencyn/a


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