A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639859



Internal ID6679949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7099812..7101809hg38UCSC Ensembl
Innerchr17:7099857..7101764hg38UCSC Ensembl
Outerchr17:7099767..7101854hg38UCSC Ensembl
chr17:7003131..7005128hg19UCSC Ensembl
Innerchr17:7003176..7005083hg19UCSC Ensembl
Outerchr17:7003086..7005173hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381998
hg191998
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15604117
SamplesNA20874
Known GenesASGR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639859
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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