A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608670



Internal ID6995594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34744893..34748653hg38UCSC Ensembl
Innerchr6:34744893..34748653hg38UCSC Ensembl
Outerchr6:34744626..34748843hg38UCSC Ensembl
chr6:34712670..34716430hg19UCSC Ensembl
Innerchr6:34712670..34716430hg19UCSC Ensembl
Outerchr6:34712403..34716620hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg383761
hg193761
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12315468, essv12315455, essv12315459, essv12315466, essv12315471, essv12315458, essv12315464, essv12315467, essv12315456, essv12315457, essv12315460, essv12315465, essv12315461, essv12315469, essv12315470, essv12315463, essv12315462
SamplesHG02496, NA20332, NA18870, NA19374, NA19448, NA19036, NA19026, NA18864, HG02450, HG01889, NA19160, NA19434, NA19475, NA19102, NA19116, NA19900, NA19214
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608670
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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