A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14867590



Internal ID1141907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:93859938..93869528hg38UCSC Ensembl
Innerchr13:93859941..93869526hg38UCSC Ensembl
Outerchr13:93859936..93869531hg38UCSC Ensembl
chr13:94512191..94521781hg19UCSC Ensembl
Innerchr13:94512194..94521779hg19UCSC Ensembl
Outerchr13:94512189..94521784hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg389591
hg199591
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633218
Supporting Variants
SamplesHG00956
Known GenesGPC6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14867590
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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