A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12916192



Internal ID706762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:106093545..106093885hg38UCSC Ensembl
Innerchr7:106093545..106093885hg38UCSC Ensembl
Outerchr7:106093545..106093885hg38UCSC Ensembl
chr7:105733991..105734331hg19UCSC Ensembl
Innerchr7:105733991..105734331hg19UCSC Ensembl
Outerchr7:105733991..105734331hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614438
Supporting Variants
SamplesHG00331
Known GenesSYPL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12916192
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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