A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5364635



Internal ID8456370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:99486239..99488926hg38UCSC Ensembl
Outerchr2:100102701..100105388hg19UCSC Ensembl
Outerchr2:99469133..99471820hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg382688
hg192688
hg182688
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2555492
Supporting Variants
SamplesNA18507
Known GenesREV1
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)essv5364635
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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