A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12879860



Internal ID2881676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:88039132..88043458hg38UCSC Ensembl
Innerchr7:88039632..88042958hg38UCSC Ensembl
Outerchr7:88038132..88044458hg38UCSC Ensembl
chr7:87668447..87672773hg19UCSC Ensembl
Innerchr7:87668947..87672273hg19UCSC Ensembl
Outerchr7:87667447..87673773hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg384327
hg194327
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614045
Supporting Variants
SamplesHG00323
Known GenesADAM22
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12879860
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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