A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639867



Internal ID7026645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7337751..7340239hg38UCSC Ensembl
Innerchr17:7337751..7340239hg38UCSC Ensembl
Outerchr17:7337436..7340570hg38UCSC Ensembl
chr17:7241070..7243558hg19UCSC Ensembl
Innerchr17:7241070..7243558hg19UCSC Ensembl
Outerchr17:7240755..7243889hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg382489
hg192489
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15604142, essv15604137, essv15604143, essv15604140, essv15604135, essv15604133, essv15604139, essv15604141, essv15604132, essv15604131, essv15604130, essv15604138, essv15604128, essv15604136, essv15604129, essv15604134
SamplesHG02122, HG02029, HG03015, HG01802, HG02050, NA18606, NA18597, NA18995, HG01599, HG00634, HG00422, HG01867, NA18566, NA18609, HG01872, HG00472
Known GenesACAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639867
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer