A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12913354



Internal ID1430357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:104799649..104801368hg38UCSC Ensembl
Innerchr7:104799649..104801368hg38UCSC Ensembl
Outerchr7:104799535..104801501hg38UCSC Ensembl
chr7:104440096..104441815hg19UCSC Ensembl
Innerchr7:104440096..104441815hg19UCSC Ensembl
Outerchr7:104439982..104441948hg19UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg381720
hg191720
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614403
Supporting Variants
SamplesHG01311
Known GenesLHFPL3, LHFPL3-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12913354
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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