A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640653



Internal ID6680740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44713885..44719081hg38UCSC Ensembl
Innerchr17:44713885..44719081hg38UCSC Ensembl
Outerchr17:44713588..44719322hg38UCSC Ensembl
chr17:42791253..42796449hg19UCSC Ensembl
Innerchr17:42791253..42796449hg19UCSC Ensembl
Outerchr17:42790956..42796690hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg385197
hg195197
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15680778, essv15680776, essv15680777, essv15680779, essv15680775
SamplesNA20508, NA20541, HG00176, NA12718, HG00310
Known GenesDBF4B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640653
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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