A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2435100



Internal ID8151972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:69427300..69428986hg38UCSC Ensembl
Outerchr5:68723127..68724813hg19UCSC Ensembl
Outerchr5:68758883..68760569hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381687
hg191687
hg181687
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5242634
SamplesNA18507
Known GenesMARVELD2, SMA4
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)esv2435100
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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