A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749805



Internal ID10330775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:67770817..67771422hg38UCSC Ensembl
Outerchr15:68063155..68063760hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38606
hg19606
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6920649, essv6717211, essv6842873, essv6940769, essv6702869, essv6901713, essv6779871, essv6792275, essv6924764, essv6936598, essv6851871, essv6678240, essv6809453, essv6966463, essv6949525, essv6800649, essv6772492, essv6953682, essv6724886, essv6732531, essv6788185, essv6776083, essv6828122, essv6900937, essv6709839, essv6839033, essv6846273, essv6824044, essv6775886, essv6871049, essv6905298, essv6696004, essv6971271, essv6857869, essv6876996, essv6741437, essv6783988, essv6665326, essv6945426
SamplesSSM100, SSM008, SSM083, SSM027, SSM024, SSM045, SSM079, SSM065, SSM087, SSM039, SSM013, SSM009, SSM041, SSM023, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM017, SSM032, SSM067, SSM086, SSM066, SSM085, SSM068, SSM072, SSM080, SSM037, SSM022, SSM070, SSM025, SSM043, SSM052, SSM012
Known GenesMAP2K5
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)esv2749805
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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