A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2427260



Internal ID3316753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:150618634..150620148hg19UCSC Ensembl
Outerchr1:148885258..148886772hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg19180
hg18180
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5264499
SamplesNA18507
Known GenesGOLPH3L
Method
Analysis
PlatformAB SOLiD 2BE Sequencing
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2427260
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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