A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639752



Internal ID6679842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3601104..3658235hg38UCSC Ensembl
Innerchr17:3601150..3658190hg38UCSC Ensembl
Outerchr17:3601059..3658281hg38UCSC Ensembl
chr17:3504398..3561529hg19UCSC Ensembl
Innerchr17:3504444..3561484hg19UCSC Ensembl
Outerchr17:3504353..3561575hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3857132
hg1957132
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15588617, essv15588616
SamplesNA20533, HG00140
Known GenesCTNS, SHPK, TRPV1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639752
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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