A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6380478



Internal ID9357881
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 Flag1
Merged StatusS
Merged Variantsesv2665200
Supporting Variants
SamplesNA18873
Known GenesACADVL, ASGR1, ASGR2, CLDN7, CTDNEP1, DLG4, DVL2, EIF5A, ELP5, GABARAP, GPS2, MIR324, NEURL4, PHF23, SLC2A4, YBX2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6380478
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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