A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663485



Internal ID9582904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:2377592..2378126hg38UCSC Ensembl
Outerchr7:2377555..2378176hg38UCSC Ensembl
Innerchr7:2417227..2417761hg19UCSC Ensembl
Outerchr7:2417190..2417811hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38622
hg19622
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5962539, essv6484101, essv6354396, essv6097949, essv6124130, essv6204571, essv6566876, essv6542549, essv5459235, essv6437876, essv5844930, essv5750201, essv6497809, essv6462254, essv6396561, essv5851863, essv6457218, essv5779253, essv5657868, essv6164502, essv6552110, essv5981782, essv5871986, essv6221900, essv6506689, essv5778347, essv6177214, essv5544713, essv5896253, essv6414183, essv6409299, essv6531598, essv6137168, essv5525398, essv6361249, essv5762198, essv5632985, essv6572530, essv6277102, essv6550000, essv6501586, essv5533742, essv6060639, essv5562857, essv5589432, essv5900973, essv5796988, essv5526113, essv6143686, essv5743283, essv5696513, essv5544053, essv6010998, essv6303953, essv5603545, essv6001356, essv5476322, essv5686662, essv6255575, essv6262843, essv5648498, essv5530292, essv6017257, essv6144318, essv5652643
SamplesNA19312, NA19445, HG00152, HG01359, NA19436, HG01440, HG01353, HG00437, HG00131, NA19311, NA19469, NA19435, HG01079, HG01389, HG01492, NA19920, NA19461, HG01101, HG01134, HG00331, HG01171, HG00353, NA20586, HG00269, HG00244, HG00635, HG00154, HG00337, HG01048, NA19444, HG00231, HG01047, NA19429, HG01136, NA19075, NA19679, HG01187, NA19457, HG00357, NA19700, HG00114, NA19213, NA19384, HG00325, HG00265, NA19720, HG01070, HG01060, NA18910, NA19711, HG00151, NA18599, NA19434, NA19818, NA19452, NA19470, HG00320, HG00324, NA18853, HG00684, HG00336, NA19448, NA19468, HG00136, NA19439
Known GenesEIF3B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663485
Frequency
Sample Size1151
Observed Gain0
Observed Loss65
Observed Complex0
Frequencyn/a


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