A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2729840

Internal ID9964155
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1438779..1439029hg38UCSC Ensembl
Outerchr10:1480974..1481224hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2729840
Sample Size96
Observed Gain0
Observed Loss52
Observed Complex0

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