A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2638984



Internal ID8702543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:7741074..7742156hg38UCSC Ensembl
Outerchr5:7741187..7742269hg19UCSC Ensembl
Outerchr5:7794187..7795269hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38240
hg19240
hg18240
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5293999
SamplesNA18507
Known GenesADCY2
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)esv2638984
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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