A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729840



Internal ID9964155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1438779..1439029hg38UCSC Ensembl
Outerchr10:1480974..1481224hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6939946, essv6944496, essv6791464, essv6681240, essv6827322, essv6702048, essv6927609, essv6771701, essv6779092, essv6879226, essv6834566, essv6912225, essv6775363, essv6768216, essv6672540, essv6850578, essv6687992, essv6787368, essv6795650, essv6842082, essv6727969, essv6915815, essv6720330, essv6887713, essv6856608, essv6931431, essv6695139, essv6731743, essv6724136, essv6691281, essv6830958, essv6838275, essv6894333, essv6811942, essv6970386, essv6948671, essv6799837, essv6965161, essv6684769, essv6904564, essv6823269, essv6705875, essv6809095, essv6935941, essv6763148, essv6976429, essv6819234, essv6815135, essv6958619, essv6716397, essv6783156, essv6923926
SamplesSSM065, SSM022, SSM027, SSM013, SSM082, SSM086, SSM036, SSM033, SSM084, SSM040, SSM078, SSM043, SSM064, SSM031, SSM035, SSM072, SSM020, SSM071, SSM016, SSM039, SSM024, SSM045, SSM067, SSM083, SSM077, SSM062, SSM093, SSM066, SSM028, SSM029, SSM003, SSM047, SSM069, SSM037, SSM034, SSM087, SSM046, SSM019, SSM096, SSM023, SSM079, SSM068, SSM044, SSM075, SSM015, SSM026, SSM098, SSM018, SSM076, SSM081, SSM070, SSM080
Known GenesADARB2
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)esv2729840
Frequency
Sample Size96
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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