A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12890840



Internal ID4284847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:93510626..93513594hg38UCSC Ensembl
Innerchr7:93510643..93513578hg38UCSC Ensembl
Outerchr7:93510610..93513611hg38UCSC Ensembl
chr7:93139938..93142906hg19UCSC Ensembl
Innerchr7:93139955..93142890hg19UCSC Ensembl
Outerchr7:93139922..93142923hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg382969
hg192969
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614161
Supporting Variants
SamplesHG03849
Known GenesCALCR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12890840
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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