A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738536



Internal ID9972876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:69329798..69330433hg38UCSC Ensembl
Outerchr9:71944714..71945349hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38636
hg19636
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6881990, essv6677349, essv6841991, essv6856449, essv6919664, essv6970255, essv6935582, essv6948571, essv6944375, essv6727875, essv6939846, essv6811885, essv6912114, essv6915726, essv6890869, essv6894854, essv6791361, essv6799721, essv6976238, essv6870395, essv6834480, essv6709117, essv6667973, essv6809017, essv6672382, essv6806024, essv6731645, essv6737542, essv6787252, essv6894239, essv6838179, essv6823173, essv6746477, essv6931311, essv6795538, essv6778985, essv6720241, essv6687907, essv6716292, essv6904471, essv6705781, essv6879163, essv6815045, essv6845588, essv6724033, essv6897302, essv6958415, essv6830870, essv6967540, essv6701941
SamplesSSM083, SSM071, SSM024, SSM075, SSM045, SSM046, SSM079, SSM087, SSM097, SSM039, SSM013, SSM093, SSM050, SSM074, SSM041, SSM023, SSM028, SSM084, SSM090, SSM021, SSM047, SSM069, SSM029, SSM026, SSM017, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM085, SSM081, SSM040, SSM072, SSM082, SSM020, SSM015, SSM016, SSM077, SSM076, SSM022, SSM055, SSM070, SSM004, SSM099, SSM043, SSM098, SSM030, SSM012
Known GenesFAM189A2
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)esv2738536
Frequency
Sample Size96
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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