A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12577412



Internal ID5694582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:146770676..146773365hg38UCSC Ensembl
Innerchr6:146770676..146773365hg38UCSC Ensembl
Outerchr6:146770371..146773683hg38UCSC Ensembl
chr6:147091812..147094501hg19UCSC Ensembl
Innerchr6:147091812..147094501hg19UCSC Ensembl
Outerchr6:147091507..147094819hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg382690
hg192690
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611157
Supporting Variants
SamplesNA19087
Known GenesADGB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12577412
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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