A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16472709



Internal ID19336269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99568271..99568271hg38UCSC Ensembl
chr7:99165894..99165894hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3688480
Supporting Variants
Samples
Known GenesZNF655
MethodSequencing
Analysisde novo assemblies produced from SoapDenovo2 were aligned to GRC37 using LAST and input into SoapAsmVar for population-wide structural variation detection. The method is described in the publication
PlatformIllumina HiSeq 2000
Comments
ReferenceBesenbacher_et_al_2015
Pubmed ID25597990
Accession Number(s)essv16472709
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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