A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730040



Internal ID9964356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1528891..1529365hg38UCSC Ensembl
Outerchr10:1571086..1571560hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6894334, essv6861923, essv6771705, essv6958624, essv6965167, essv6834567, essv6709196, essv6850582, essv6948676, essv6906018, essv6755247, essv6866664, essv6912226, essv6702049
SamplesSSM065, SSM027, SSM082, SSM086, SSM088, SSM089, SSM039, SSM024, SSM041, SSM002, SSM015, SSM026, SSM098, SSM058
Known GenesADARB2, ADARB2-AS1
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)esv2730040
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer