A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613016



Internal ID6653227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:45166487..45167709hg38UCSC Ensembl
Innerchr7:45166520..45167676hg38UCSC Ensembl
Outerchr7:45166454..45167742hg38UCSC Ensembl
chr7:45206086..45207308hg19UCSC Ensembl
Innerchr7:45206119..45207275hg19UCSC Ensembl
Outerchr7:45206053..45207341hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg381223
hg191223
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12756647, essv12756642, essv12756644, essv12756643, essv12756646, essv12756645, essv12756641, essv12756648, essv12756640
SamplesNA19020, NA20321, HG03385, NA20320, HG03202, HG03388, HG04219, HG02839, HG02760
Known GenesRAMP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613016
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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