A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640552



Internal ID7027327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40143804..40146808hg38UCSC Ensembl
Innerchr17:40143804..40146808hg38UCSC Ensembl
Outerchr17:40143572..40146921hg38UCSC Ensembl
chr17:38300057..38303061hg19UCSC Ensembl
Innerchr17:38300057..38303061hg19UCSC Ensembl
Outerchr17:38299825..38303174hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg383005
hg193005
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15674455, essv15674450, essv15674449, essv15674454, essv15674453, essv15674451, essv15674456, essv15674452
SamplesHG01537, HG00311, HG01284, NA12234, HG01130, NA12272, NA20357, HG01377
Known GenesCASC3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640552
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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