A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12911501



Internal ID5099166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102316159..102316772hg38UCSC Ensembl
Innerchr7:102316215..102316717hg38UCSC Ensembl
Outerchr7:102316104..102316828hg38UCSC Ensembl
chr7:101956626..101957239hg19UCSC Ensembl
Innerchr7:101956682..101957184hg19UCSC Ensembl
Outerchr7:101956571..101957295hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38614
hg19614
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614347
Supporting Variants
SamplesNA18552
Known GenesSH2B2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12911501
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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