A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644178



Internal ID6684246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:32839265..32841435hg38UCSC Ensembl
Innerchr19:32839276..32841424hg38UCSC Ensembl
Outerchr19:32839254..32841446hg38UCSC Ensembl
chr19:33330171..33332341hg19UCSC Ensembl
Innerchr19:33330182..33332330hg19UCSC Ensembl
Outerchr19:33330160..33332352hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg382171
hg192171
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16041339, essv16041337, essv16041338, essv16041340
SamplesHG01444, HG03048, HG02585, HG03054
Known GenesSLC7A9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644178
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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