A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12178841



Internal ID4417483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3185005..3190736hg38UCSC Ensembl
Innerchr6:3185028..3190713hg38UCSC Ensembl
Outerchr6:3184982..3190759hg38UCSC Ensembl
chr6:3185239..3190970hg19UCSC Ensembl
Innerchr6:3185262..3190947hg19UCSC Ensembl
Outerchr6:3185216..3190993hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg385732
hg195732
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607924
Supporting Variants
SamplesHG03931
Known GenesLOC100507194
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12178841
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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