A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587217



Internal ID6627524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112677342..112681856hg38UCSC Ensembl
Innerchr1:112677350..112681848hg38UCSC Ensembl
Outerchr1:112677334..112681864hg38UCSC Ensembl
chr1:113219964..113224478hg19UCSC Ensembl
Innerchr1:113219972..113224470hg19UCSC Ensembl
Outerchr1:113219956..113224486hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg384515
hg194515
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10076599, essv10076608, essv10076598, essv10076613, essv10076603, essv10076609, essv10076605, essv10076600, essv10076614, essv10076610, essv10076601, essv10076612, essv10076604, essv10076606, essv10076607, essv10076602, essv10076611
SamplesNA18508, NA18504, HG03297, NA19314, HG03069, NA19916, HG02545, NA19445, HG02334, HG02511, HG03472, HG02667, HG03433, NA20334, HG02053, HG02643, HG03129
Known GenesMOV10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587217
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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