A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714525



Internal ID9948809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:57218676..57219035hg38UCSC Ensembl
Outerchr16:57252588..57252947hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38360
hg19360
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6665578, essv6792436, essv6953846, essv6943417, essv6706704, essv6971421, essv6685567, essv6728853, essv6806791, essv6831855, essv6742586, essv6975984, essv6725047, essv6713502, essv6901047, essv6913168, essv6916663, essv6852089, essv6824191, essv6699127, essv6885450, essv6809811, essv6796618, essv6895168, essv6682100, essv6891749, essv6810454
SamplesSSM007, SSM086, SSM033, SSM042, SSM040, SSM025, SSM071, SSM016, SSM045, SSM097, SSM100, SSM009, SSM028, SSM029, SSM003, SSM095, SSM034, SSM038, SSM046, SSM079, SSM074, SSM004, SSM075, SSM015, SSM098, SSM081, SSM070
Known GenesRSPRY1
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)esv2714525
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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