A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716034



Internal ID10299670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:50533731..50534306hg38UCSC Ensembl
Outerchr17:48611092..48611667hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38576
hg19576
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6688852, essv6800989, essv6828394, essv6703191, essv6792589, essv6725196, essv6843191, essv6839336, essv6932636, essv6905567, essv6824325, essv6717527, essv6769044, essv6674295, essv6710070, essv6732856, essv6728997, essv6665856, essv6696310, essv6780159, essv6945754, essv6713625, essv6776368, essv6936945, essv6913327, essv6685653, essv6925020, essv6852304, essv6971586, essv6784316, essv6788501
SamplesSSM083, SSM045, SSM046, SSM064, SSM079, SSM039, SSM013, SSM042, SSM041, SSM023, SSM028, SSM084, SSM021, SSM047, SSM018, SSM069, SSM029, SSM035, SSM031, SSM067, SSM086, SSM066, SSM068, SSM072, SSM020, SSM015, SSM080, SSM037, SSM070, SSM034, SSM043
Known GenesEPN3
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2716034
Frequency
Sample Size96
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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