A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614883



Internal ID6655088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:124834077..124834601hg38UCSC Ensembl
Innerchr7:124834083..124834595hg38UCSC Ensembl
Outerchr7:124834071..124834607hg38UCSC Ensembl
chr7:124474131..124474655hg19UCSC Ensembl
Innerchr7:124474137..124474649hg19UCSC Ensembl
Outerchr7:124474125..124474661hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg38525
hg19525
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12949683, essv12949688, essv12949686, essv12949690, essv12949684, essv12949689, essv12949691, essv12949685, essv12949687
SamplesNA19190, HG03168, NA20774, HG01766, NA18874, NA19026, HG02555, HG03198, HG03118
Known GenesPOT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614883
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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