A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12430133



Internal ID1316819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:74764879..74777201hg38UCSC Ensembl
Innerchr6:74764902..74777178hg38UCSC Ensembl
Outerchr6:74764856..74777224hg38UCSC Ensembl
chr6:75474595..75486917hg19UCSC Ensembl
Innerchr6:75474618..75486894hg19UCSC Ensembl
Outerchr6:75474572..75486940hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3812323
hg1912323
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609559
Supporting Variants
SamplesHG01162
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12430133
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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