A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2626974



Internal ID1657514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:6209231..6211238hg38UCSC Ensembl
Outerchr10:6251194..6253201hg19UCSC Ensembl
Outerchr10:6291200..6293207hg18UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg382008
hg192008
hg182008
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5207976
SamplesNA18507
Known GenesPFKFB3
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)esv2626974
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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