A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15624664



Internal ID2700844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:15467618..15469804hg38UCSC Ensembl
Innerchr17:15467618..15469804hg38UCSC Ensembl
Outerchr17:15467370..15470065hg38UCSC Ensembl
chr17:15370932..15373118hg19UCSC Ensembl
Innerchr17:15370932..15373118hg19UCSC Ensembl
Outerchr17:15370684..15373379hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg382187
hg192187
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640075
Supporting Variants
SamplesHG02386
Known GenesTVP23C-CDRT4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15624664
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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