A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639802



Internal ID7026580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5057479..5061066hg38UCSC Ensembl
Innerchr17:5057570..5061016hg38UCSC Ensembl
Outerchr17:5057429..5061116hg38UCSC Ensembl
chr17:4960774..4964361hg19UCSC Ensembl
Innerchr17:4960865..4964311hg19UCSC Ensembl
Outerchr17:4960724..4964411hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg383588
hg193588
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15597335, essv15597334, essv15597333
SamplesNA20795, NA20819, NA20521
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639802
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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