A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640858



Internal ID6680943
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15705075, essv15705074
SamplesHG00357, HG00275
Known GenesC17orf67
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640858
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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