A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13170742



Internal ID753322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39240593..39293480hg38UCSC Ensembl
Innerchr8:39240620..39293453hg38UCSC Ensembl
Outerchr8:39240566..39293507hg38UCSC Ensembl
chr8:39098112..39150999hg19UCSC Ensembl
Innerchr8:39098139..39150972hg19UCSC Ensembl
Outerchr8:39098085..39151026hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3852888
hg1952888
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616941
Supporting Variants
SamplesHG00356
Known GenesADAM32
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13170742
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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