A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673891



Internal ID9939996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:925616..928022hg38UCSC Ensembl
Outerchr19:925245..928392hg38UCSC Ensembl
Innerchr19:925616..928022hg19UCSC Ensembl
Outerchr19:925245..928392hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383148
hg193148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5783015, essv6355934, essv6383576, essv6112246, essv5876545, essv6105685, essv6433640, essv6477103, essv6314285, essv5688914, essv5978227, essv5623365, essv5736079, essv5488463, essv5709502, essv6024646, essv6554630, essv6549846, essv5771591, essv6579166, essv6130749, essv6375824, essv6405430, essv5582730, essv6144276, essv5964857, essv6168046, essv5704644, essv5462377, essv6372926, essv6379849, essv6401209, essv6351291, essv5705728, essv6063381, essv6244015, essv6173590, essv6136702, essv6002398, essv6446187, essv5711627, essv5470245, essv6312823, essv5515779, essv6498539, essv6196612, essv5894735, essv6112547, essv5945105, essv6441636, essv5400790, essv5840159, essv5596934, essv6560548, essv5782149, essv5989712, essv6326480, essv6484908, essv6568709, essv6296677, essv6005886, essv6539193, essv5729237, essv6526615, essv6393118, essv6548072, essv6430625
SamplesHG00361, HG00187, HG00315, HG00306, HG00367, HG00318, HG00181, HG00179, HG00337, HG00327, HG00271, HG00272, HG00173, HG00330, HG00346, HG00369, HG00334, HG00185, HG00281, HG00277, HG00335, HG00325, HG00309, HG00182, HG00338, HG00326, HG00178, HG00323, HG00313, HG00188, HG00268, HG00266, HG00183, HG00176, HG00282, HG00328, HG00368, HG00320, HG00344, HG00275, HG00324, HG00284, HG00273, HG00373, HG00331, HG00321, HG00276, HG00336, HG00285, HG00366, HG00353, HG00375, HG00357, HG00278, HG00339, HG00269, HG00312, HG00329, HG00342, HG00310, HG00186, HG00280, HG00343, HG00377, HG00372, HG00274, HG00345
Known GenesARID3A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673891
Frequency
Sample Size1151
Observed Gain0
Observed Loss67
Observed Complex0
Frequencyn/a


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