A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12499517



Internal ID6332772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:108234251..108237519hg38UCSC Ensembl
Innerchr6:108234251..108237519hg38UCSC Ensembl
Outerchr6:108234056..108237700hg38UCSC Ensembl
chr6:108555455..108558723hg19UCSC Ensembl
Innerchr6:108555455..108558723hg19UCSC Ensembl
Outerchr6:108555260..108558904hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg383269
hg193269
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610314
Supporting Variants
SamplesNA19982
Known GenesSNX3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12499517
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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