A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641230



Internal ID6681315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73831787..74694861hg38UCSC Ensembl
Innerchr17:73831937..74694711hg38UCSC Ensembl
Outerchr17:73831637..74695011hg38UCSC Ensembl
chr17:71827926..72691000hg19UCSC Ensembl
Innerchr17:71828076..72690850hg19UCSC Ensembl
Outerchr17:71827776..72691150hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38863075
hg19863075
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15737304, essv15737306, essv15737305
SamplesNA12348, HG00380, NA06989
Known GenesBTBD17, C17orf77, CD300A, CD300C, CD300E, CD300LB, CD300LD, CD300LF, DNAI2, GPR142, GPRC5C, KIF19, MGC16275, RAB37, RPL38, TTYH2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641230
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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