A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640946



Internal ID6681031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:61241617..61244761hg38UCSC Ensembl
Innerchr17:61241642..61244736hg38UCSC Ensembl
Outerchr17:61241592..61244786hg38UCSC Ensembl
chr17:59318978..59322122hg19UCSC Ensembl
Innerchr17:59319003..59322097hg19UCSC Ensembl
Outerchr17:59318953..59322147hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg383145
hg193145
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15716476, essv15716482, essv15716480, essv15716477, essv15716483, essv15716478, essv15716474, essv15716481, essv15716479, essv15716475
SamplesHG02122, NA18535, HG00500, HG02139, HG00657, NA18546, NA18627, NA19917, HG04158, NA18606
Known GenesBCAS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640946
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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