A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643820



Internal ID7030577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17494260..17495579hg38UCSC Ensembl
Innerchr19:17494260..17495579hg38UCSC Ensembl
Outerchr19:17494127..17495876hg38UCSC Ensembl
chr19:17605069..17606388hg19UCSC Ensembl
Innerchr19:17605069..17606388hg19UCSC Ensembl
Outerchr19:17604936..17606685hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381320
hg191320
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16003691, essv16003693, essv16003687, essv16003680, essv16003681, essv16003685, essv16003689, essv16003679, essv16003692, essv16003684, essv16003688, essv16003682, essv16003686, essv16003690, essv16003683
SamplesHG01986, HG02944, HG03521, HG03099, HG03135, HG01064, HG03105, NA19023, NA18498, HG02489, NA19908, HG03132, NA19143, NA19213, HG02947
Known GenesSLC27A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643820
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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