A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12583988



Internal ID995123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151339671..151346324hg38UCSC Ensembl
Innerchr6:151339721..151346274hg38UCSC Ensembl
Outerchr6:151339621..151346374hg38UCSC Ensembl
chr6:151660806..151667459hg19UCSC Ensembl
Innerchr6:151660856..151667409hg19UCSC Ensembl
Outerchr6:151660756..151667509hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg386654
hg196654
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611263
Supporting Variants
SamplesHG00622
Known GenesAKAP12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12583988
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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