A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614175



Internal ID7001070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:93919741..93922994hg38UCSC Ensembl
Innerchr7:93919741..93922994hg38UCSC Ensembl
Outerchr7:93919241..93923494hg38UCSC Ensembl
chr7:93549053..93552306hg19UCSC Ensembl
Innerchr7:93549053..93552306hg19UCSC Ensembl
Outerchr7:93548553..93552806hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg383254
hg193254
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12897722, essv12897718, essv12897719, essv12897717, essv12897723, essv12897720, essv12897721
SamplesNA21110, NA19443, NA19471, NA18939, HG02484, NA19741, NA19146
Known GenesGNG11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614175
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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