A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10076601



Internal ID78417
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587217
Supporting Variants
SamplesHG02545
Known GenesMOV10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10076601
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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