A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3667684



Internal ID19039006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44983702..44983702hg38UCSC Ensembl
chr7:45023301..45023301hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16490120
Samples
Known GenesSNHG15
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)esv3667684
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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