A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644128



Internal ID6684196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:29930915..29932863hg38UCSC Ensembl
Innerchr19:29930923..29932856hg38UCSC Ensembl
Outerchr19:29930908..29932871hg38UCSC Ensembl
chr19:30421822..30423770hg19UCSC Ensembl
Innerchr19:30421830..30423763hg19UCSC Ensembl
Outerchr19:30421815..30423778hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg381949
hg191949
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16032738, essv16032737, essv16032727, essv16032732, essv16032733, essv16032734, essv16032739, essv16032736, essv16032735, essv16032728, essv16032740, essv16032741, essv16032730, essv16032729, essv16032731
SamplesHG03684, HG04146, HG03646, HG03940, HG03643, NA21124, HG03882, HG03604, HG03722, NA21122, NA21143, HG03640, HG03016, HG03012, HG04182
Known GenesURI1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644128
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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