A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2558199



Internal ID8275072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148029731..148031219hg38UCSC Ensembl
Outerchr7:147726823..147728311hg19UCSC Ensembl
Outerchr7:147357756..147359244hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381489
hg191489
hg181489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5168210
SamplesNA18507
Known GenesCNTNAP2, MIR548F3, MIR548T
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)esv2558199
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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