A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665200



Internal ID9584619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7091816..7333062hg38UCSC Ensembl
chr17:6995135..7236381hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38241247
hg19241247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5978088, essv6380478
SamplesNA18873, NA18986
Known GenesACADVL, ASGR1, ASGR2, CLDN7, CTDNEP1, DLG4, DVL2, EIF5A, ELP5, GABARAP, GPS2, MIR324, NEURL4, PHF23, SLC2A4, YBX2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665200
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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