A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12183118



Internal ID2032849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:7912959..7923610hg38UCSC Ensembl
Innerchr6:7912959..7923610hg38UCSC Ensembl
Outerchr6:7912459..7924110hg38UCSC Ensembl
chr6:7913192..7923843hg19UCSC Ensembl
Innerchr6:7913192..7923843hg19UCSC Ensembl
Outerchr6:7912692..7924343hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg3810652
hg1910652
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608020
Supporting Variants
SamplesHG01865
Known GenesBLOC1S5-TXNDC5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12183118
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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