A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12670041



Internal ID5594350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:3796717..3816956hg38UCSC Ensembl
Innerchr7:3797217..3816456hg38UCSC Ensembl
Outerchr7:3795717..3817956hg38UCSC Ensembl
chr7:3836349..3856588hg19UCSC Ensembl
Innerchr7:3836849..3856088hg19UCSC Ensembl
Outerchr7:3835349..3857588hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg3820240
hg1920240
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611900
Supporting Variants
SamplesNA19030
Known GenesSDK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12670041
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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