A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639727



Internal ID6679817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2830288..2837596hg38UCSC Ensembl
Innerchr17:2830338..2837546hg38UCSC Ensembl
Outerchr17:2830194..2837690hg38UCSC Ensembl
chr17:2733582..2740890hg19UCSC Ensembl
Innerchr17:2733632..2740840hg19UCSC Ensembl
Outerchr17:2733488..2740984hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg387309
hg197309
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15585970
SamplesHG00131
Known GenesRAP1GAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639727
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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