A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663878



Internal ID9583297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:5690484..5694490hg38UCSC Ensembl
Outerchr2:5690113..5694860hg38UCSC Ensembl
Innerchr2:5830616..5834622hg19UCSC Ensembl
Outerchr2:5830245..5834992hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg384748
hg194748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv676e199
Supporting Variantsessv6134663, essv5945403, essv5840922, essv5958020, essv6159991, essv5593012, essv5654829, essv5513166, essv6373096, essv6593126, essv5882620, essv5541451, essv6037132, essv5487828, essv6433931, essv6370420, essv6547616, essv6030078, essv6233877, essv6387187, essv6310053, essv5913637, essv5642564, essv6294655, essv5811995, essv5817960, essv6055033, essv6407582, essv6202167, essv6120000, essv5546267, essv6066248, essv5731898, essv6314244
SamplesHG01356, HG01359, HG01389, HG01374, HG01465, HG01461, HG01140, HG01350, HG01366, HG01351, HG01488, HG01492, HG01354, HG01365, HG01134, HG01495, HG01440, HG01550, HG01353, HG01136, HG01384, HG01149, HG01390, HG01148, HG01551, HG01375, HG01494, HG01489, HG01342, HG01491, HG01254, HG01377, HG01378, HG01112
Known GenesSOX11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663878
Frequency
Sample Size1151
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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