A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3672694



Internal ID19390702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:71680761..71680819hg38UCSC Ensembl
chr10:73440518..73440576hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16494628
Samples
Known GenesCDH23
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)esv3672694
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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