A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12905057



Internal ID4890343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:98323619..98325847hg38UCSC Ensembl
Innerchr7:98323619..98325847hg38UCSC Ensembl
Outerchr7:98323451..98326024hg38UCSC Ensembl
chr7:97952931..97955159hg19UCSC Ensembl
Innerchr7:97952931..97955159hg19UCSC Ensembl
Outerchr7:97952763..97955336hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg382229
hg192229
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614253
Supporting Variants
SamplesNA12413
Known GenesBAIAP2L1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12905057
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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