A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585015



Internal ID6625334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1696366..1742370hg38UCSC Ensembl
chr1:1627805..1673809hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3846005
hg1946005
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9841429, essv9841418, essv9841392, essv9841387, essv9841415, essv9841439, essv9841413, essv9841395, essv9841388, essv9841390, essv9841436, essv9841405, essv9841420, essv9841421, essv9841403, essv9841419, essv9841396, essv9841397, essv9841423, essv9841417, essv9841399, essv9841391, essv9841432, essv9841407, essv9841424, essv9841428, essv9841422, essv9841406, essv9841438, essv9841409, essv9841426, essv9841412, essv9841431, essv9841402, essv9841411, essv9841408, essv9841389, essv9841433, essv9841416, essv9841386, essv9841404, essv9841398, essv9841414, essv9841425, essv9841401, essv9841393, essv9841410, essv9841435, essv9841427, essv9841430, essv9841441, essv9841440, essv9841400, essv9841394, essv9841437, essv9841434
SamplesHG03812, HG01173, NA19204, HG03517, NA11920, HG00257, HG01456, NA20808, HG01518, HG01632, HG02154, HG00693, NA20846, NA18582, HG00139, HG02143, NA12889, HG02502, HG01048, NA12828, NA20127, HG01524, HG01248, HG00282, NA19707, NA20809, NA20895, HG03428, NA20832, HG01630, NA18537, HG01047, HG01311, HG03388, HG04173, NA19740, HG01530, HG00258, NA20851, HG00382, HG03833, HG02223, HG02355, HG01685, NA20785, HG01974, NA20516, HG01801, HG01868, HG00174, NA20528, NA07056, NA11892, HG02851, HG02351, HG01927
Known GenesCDK11A, CDK11B, MMP23A, SLC35E2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585015
Frequency
Sample Size2504
Observed Gain56
Observed Loss0
Observed Complex0
Frequencyn/a


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