A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12477598



Internal ID3540436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:99586682..99587492hg38UCSC Ensembl
Innerchr6:99586732..99587440hg38UCSC Ensembl
Outerchr6:99586362..99587812hg38UCSC Ensembl
chr6:100034558..100035368hg19UCSC Ensembl
Innerchr6:100034608..100035316hg19UCSC Ensembl
Outerchr6:100034238..100035688hg19UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg38811
hg19811
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610124
Supporting Variants
SamplesHG03127
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12477598
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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