A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11337880



Internal ID1170743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:7795996..7797447hg38UCSC Ensembl
Innerchr4:7796012..7797431hg38UCSC Ensembl
Outerchr4:7795980..7797463hg38UCSC Ensembl
chr4:7797723..7799174hg19UCSC Ensembl
Innerchr4:7797739..7799158hg19UCSC Ensembl
Outerchr4:7797707..7799190hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381452
hg191452
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599537
Supporting Variants
SamplesHG01052
Known GenesAFAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11337880
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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