A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644388



Internal ID7031143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41610746..41612912hg38UCSC Ensembl
Innerchr19:41610746..41612912hg38UCSC Ensembl
Outerchr19:41610505..41613072hg38UCSC Ensembl
chr19:42117106..42119270hg19UCSC Ensembl
Innerchr19:42117106..42119270hg19UCSC Ensembl
Outerchr19:42116865..42119430hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382167
hg192165
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16056143, essv16056139, essv16056134, essv16056138, essv16056136, essv16056137, essv16056144, essv16056140, essv16056145, essv16056135, essv16056142, essv16056141
SamplesNA19399, HG02836, HG02882, HG03270, HG02307, NA18856, NA18909, HG03461, HG02721, HG02274, HG03419, HG03162
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644388
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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