A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739857



Internal ID10323493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:2447581..2480141hg38UCSC Ensembl
OuterchrX:2365622..2398182hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3832561
hg1932561
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6765075, essv6667813, essv6775009, essv6805814, essv6808786, essv6672154, essv6975646, essv6841713, essv6975645, essv6765053, essv6775010, essv6911800, essv6841712, essv6799390, essv6782714, essv6765064, essv6671842, essv6712317, essv6969907, essv6932596, essv6737318, essv6749090, essv6876088, essv6957808, essv6690905, essv6948306, essv6873144, essv6737319, essv6919368, essv6923538, essv6701584, essv6786923, essv6923535, essv6684415, essv6919370, essv6734670, essv6694717, essv6778707, essv6891966, essv6964504, essv6727600, essv6859253, essv6822881, essv6767906, essv6873143, essv6671844, essv6876087, essv6830626, essv6891955, essv6943989, essv6834217, essv6939511, essv6690904, essv6782713, essv6684414, essv6754913, essv6923537, essv6830625, essv6834218, essv6878951, essv6927254, essv6808785, essv6786924, essv6908073, essv6791020, essv6884574, essv6932584, essv6684413, essv6727602, essv6887396, essv6841714, essv6771297, essv6887395, essv6935239, essv6923536, essv6919369, essv6767905, essv6884573, essv6861438, essv6876085, essv6969908, essv6795163, essv6841711, essv6935237, essv6935238, essv6791022, essv6727601
SamplesSSM036, SSM008, SSM071, SSM027, SSM024, SSM075, SSM046, SSM011, SSM064, SSM079, SSM065, SSM039, SSM093, SSM050, SSM074, SSM042, SSM088, SSM023, SSM058, SSM028, SSM092, SSM084, SSM021, SSM018, SSM069, SSM029, SSM096, SSM026, SSM017, SSM019, SSM003, SSM031, SSM067, SSM001, SSM014, SSM066, SSM068, SSM081, SSM072, SSM082, SSM015, SSM037, SSM022, SSM091, SSM070, SSM095, SSM034, SSM049, SSM056, SSM030, SSM012
Known GenesDHRSX
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)esv2739857
Frequency
Sample Size96
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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