A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13262718



Internal ID1060537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:95589739..95597416hg38UCSC Ensembl
Innerchr8:95589739..95597416hg38UCSC Ensembl
Outerchr8:95589239..95597916hg38UCSC Ensembl
chr8:96601967..96609644hg19UCSC Ensembl
Innerchr8:96601967..96609644hg19UCSC Ensembl
Outerchr8:96601467..96610144hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg387678
hg197678
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618105
Supporting Variants
SamplesHG00684
Known GenesLOC100616530
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13262718
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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