A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12496812



Internal ID2498628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:105171720..105172789hg38UCSC Ensembl
Innerchr6:105171726..105172783hg38UCSC Ensembl
Outerchr6:105171714..105172795hg38UCSC Ensembl
chr6:105619595..105620664hg19UCSC Ensembl
Innerchr6:105619601..105620658hg19UCSC Ensembl
Outerchr6:105619589..105620670hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381070
hg191070
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610253
Supporting Variants
SamplesHG02139
Known GenesPOPDC3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12496812
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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