A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2748495

Internal ID9982779
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:24607596..24632432hg38UCSC Ensembl
Outerchr14:25076802..25101638hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6800493, essv6772327, essv6768696, essv6717059, essv6924587, essv6752749, essv6945243, essv6891495, essv6966214, essv6879660, essv6940605, essv6685312, essv6836587, essv6949352, essv6724739, essv6857611, essv6763538, essv6712610, essv6910240, essv6732384, essv6812402, essv6706431, essv6920470, essv6720951, essv6737264, essv6788038, essv6831565, essv6749863, essv6928138, essv6842703, essv6941084, essv6897827, essv6796289, essv6744201, essv6901561, essv6912859, essv6783827, essv6820013, essv6765913, essv6916352, essv6862690, essv6846146, essv6668340, essv6755763, essv6885246, essv6741299, essv6775945, essv6823892, essv6936425, essv6681835, essv6792118, essv6870908, essv6905138, essv6688866
SamplesSSM010, SSM065, SSM022, SSM027, SSM013, SSM053, SSM006, SSM033, SSM084, SSM099, SSM040, SSM078, SSM043, SSM088, SSM090, SSM064, SSM072, SSM071, SSM016, SSM057, SSM001, SSM024, SSM045, SSM097, SSM062, SSM005, SSM012, SSM093, SSM056, SSM085, SSM017, SSM066, SSM003, SSM095, SSM030, SSM047, SSM069, SSM021, SSM002, SSM034, SSM063, SSM087, SSM019, SSM023, SSM079, SSM052, SSM068, SSM044, SSM015, SSM018, SSM076, SSM058, SSM081, SSM070
Known GenesGZMB, GZMH
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2748495
Sample Size96
Observed Gain0
Observed Loss54
Observed Complex0

Hosted by The Centre for Applied Genomics
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