A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2582352



Internal ID1612892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:36496091..36497581hg38UCSC Ensembl
Outerchr21:37868389..37869879hg19UCSC Ensembl
Outerchr21:36790259..36791749hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg381491
hg191491
hg181491
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5279032
SamplesNA18507
Known GenesCLDN14
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2582352
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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