A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12671530



Internal ID1605687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4865590..4969763hg38UCSC Ensembl
Innerchr7:4866090..4969263hg38UCSC Ensembl
Outerchr7:4864590..4970763hg38UCSC Ensembl
chr7:4905221..5009394hg19UCSC Ensembl
Innerchr7:4905721..5008894hg19UCSC Ensembl
Outerchr7:4904221..5010394hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38104174
hg19104174
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611953
Supporting Variants
SamplesHG01491
Known GenesMMD2, RADIL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12671530
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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