A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643537



Internal ID7030296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5722997..5724518hg38UCSC Ensembl
Innerchr19:5723037..5724478hg38UCSC Ensembl
Outerchr19:5722957..5724558hg38UCSC Ensembl
chr19:5723008..5724529hg19UCSC Ensembl
Innerchr19:5723048..5724489hg19UCSC Ensembl
Outerchr19:5722968..5724569hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381522
hg191522
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15984163, essv15984151, essv15984158, essv15984157, essv15984159, essv15984161, essv15984162, essv15984164, essv15984145, essv15984156, essv15984154, essv15984147, essv15984153, essv15984149, essv15984146, essv15984152, essv15984165, essv15984148, essv15984150, essv15984160, essv15984155
SamplesNA21110, HG04229, HG04076, NA20846, HG04022, HG03910, HG03888, HG04162, NA20895, HG04035, HG03781, HG03823, HG02649, HG04118, HG04025, HG03692, HG03703, HG03600, HG03789, HG03863, HG03022
Known GenesCATSPERD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643537
Frequency
Sample Size2504
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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