A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12902271



Internal ID1094881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:97160071..97163568hg38UCSC Ensembl
Innerchr7:97160080..97163560hg38UCSC Ensembl
Outerchr7:97160063..97163577hg38UCSC Ensembl
chr7:96789383..96792880hg19UCSC Ensembl
Innerchr7:96789392..96792872hg19UCSC Ensembl
Outerchr7:96789375..96792889hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg383498
hg193498
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614223
Supporting Variants
SamplesHG00729
Known GenesACN9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12902271
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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