A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15705074



Internal ID5706890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:56823556..56827449hg38UCSC Ensembl
Innerchr17:56823556..56827449hg38UCSC Ensembl
Outerchr17:56823299..56827739hg38UCSC Ensembl
chr17:54900917..54904810hg19UCSC Ensembl
Innerchr17:54900917..54904810hg19UCSC Ensembl
Outerchr17:54900660..54905100hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg383894
hg193894
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640858
Supporting Variants
SamplesHG00275
Known GenesC17orf67
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15705074
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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