A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12973600



Internal ID4899970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:133355199..133355845hg38UCSC Ensembl
Innerchr7:133355199..133355845hg38UCSC Ensembl
Outerchr7:133354968..133356080hg38UCSC Ensembl
chr7:133039953..133040599hg19UCSC Ensembl
Innerchr7:133039953..133040599hg19UCSC Ensembl
Outerchr7:133039722..133040834hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38647
hg19647
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615068
Supporting Variants
SamplesNA12716
Known GenesEXOC4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12973600
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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