A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15771172



Internal ID1076558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:83012796..83018566hg38UCSC Ensembl
Innerchr17:83012799..83018563hg38UCSC Ensembl
Outerchr17:83012793..83018569hg38UCSC Ensembl
chr17:80970672..80976442hg19UCSC Ensembl
Innerchr17:80970675..80976439hg19UCSC Ensembl
Outerchr17:80970669..80976445hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg385771
hg195771
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641447
Supporting Variants
SamplesHG00699
Known GenesB3GNTL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15771172
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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