A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12560533



Internal ID2923398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136195262..136199953hg38UCSC Ensembl
Innerchr6:136195262..136199953hg38UCSC Ensembl
Outerchr6:136195126..136200069hg38UCSC Ensembl
chr6:136516400..136521091hg19UCSC Ensembl
Innerchr6:136516400..136521091hg19UCSC Ensembl
Outerchr6:136516264..136521207hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg384692
hg194692
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610911
Supporting Variants
SamplesHG02585
Known GenesPDE7B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12560533
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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