A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640081



Internal ID6680171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:15725032..15774926hg38UCSC Ensembl
Innerchr17:15725532..15774426hg38UCSC Ensembl
Outerchr17:15724032..15775926hg38UCSC Ensembl
chr17:15628346..15678240hg19UCSC Ensembl
Innerchr17:15628846..15677740hg19UCSC Ensembl
Outerchr17:15627346..15679240hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3849895
hg1949895
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv562e214
Supporting Variantsessv15625227, essv15625226, essv15625231, essv15625232, essv15625223, essv15625230, essv15625228, essv15625225, essv15625235, essv15625229, essv15625222, essv15625224, essv15625234, essv15625221, essv15625233
SamplesHG01985, HG02860, HG03777, HG04225, HG00844, NA18626, HG02048, HG02408, HG00476, HG02771, HG02113, HG02182, HG02351, HG02406, HG02006
Known GenesCDRT15P2, TBC1D26
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640081
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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