A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12909997



Internal ID1810480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:101206795..101265542hg38UCSC Ensembl
chr7:100850076..100908823hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3858748
hg1958748
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614318
Supporting Variants
SamplesHG01684
Known GenesCLDN15, FIS1, PLOD3, ZNHIT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12909997
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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