A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12496619



Internal ID2498435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:104812952..104815881hg38UCSC Ensembl
Innerchr6:104812952..104815881hg38UCSC Ensembl
Outerchr6:104812533..104816394hg38UCSC Ensembl
chr6:105260827..105263756hg19UCSC Ensembl
Innerchr6:105260827..105263756hg19UCSC Ensembl
Outerchr6:105260408..105264269hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg382930
hg192930
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610247
Supporting Variants
SamplesNA19391
Known GenesHACE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12496619
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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