A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643742



Internal ID6683812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14488741..14490973hg38UCSC Ensembl
Innerchr19:14488741..14490973hg38UCSC Ensembl
Outerchr19:14488412..14491210hg38UCSC Ensembl
chr19:14599553..14601785hg19UCSC Ensembl
Innerchr19:14599553..14601785hg19UCSC Ensembl
Outerchr19:14599224..14602022hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg382233
hg192233
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15997290, essv15997288, essv15997287, essv15997285, essv15997286, essv15997291, essv15997289
SamplesHG02691, HG03461, HG03470, HG03442, NA19042, NA19027, NA19468
Known GenesGIPC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643742
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer